Allele Registry

OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.115381484_115381485delinsGC , CM000671.2:g.115381484_115381485delinsGC	GRCh38
NC_000009.11:g.118143763_118143764delinsGC , CM000671.1:g.118143763_118143764delinsGC	GRCh37
NC_000009.10:g.117183584_117183585delinsGC	NCBI36
NG_027530.1:g.244667_244668delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374016.5:c.13+4769_13+4770delinsGC	ENSP00000363128.1:n.13+4769_13+4770delinsGC
NM_017418.2:c.13+4769_13+4770delinsGC	NP_059114.1:n.13+4769_13+4770delinsGC
XM_011518753.1:c.13+4769_13+4770delinsGC	XP_011517055.1:n.13+4769_13+4770delinsGC
NR_163556.1:n.535+4769_535+4770delinsGC